Genomic variant #0000016630

Chromosome 17
Allele Paternal (confirmed)
Affects function (reported) Probably affects function
Affects function (concluded) Probably affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.56288341C>T
DNA change (hg38) -
Published as c.958G>A: p.V320I, splice variant
ISCN -
DB-ID MKS1_000016
Variant remarks variant last nucleotide exon 11, affects splicing; 1 French MKS1 family (com-het)
Reference PubMed: Khaddour et al. 2007
dbSNP ID -
Germline/Somatic/De novo SUMMARY record
Segregation yes
Frequency 0/105 CON
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Anne Polvi




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Class.     

RNA change     

Protein     
MKS1 NM_017777.3 +?/+? 11 c.958G>A - r.[958g>a, spl?] p.[Val320Ile, ?]